BRST5:Adenoid cystic carcinoma
Primary Author(s)*
Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center
Cancer Category/Type
Breast Cancer / Epithelial Tumours of the Breast
Cancer Sub-Classification / Subtype
Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma
Definition / Description of Disease
Invasive carcinoma with a characteristic histologic pattern, comprised of epithelial and myoepithelial cells. Epithelial cells form glands with lumina containing mucoid material; associated stromal matrix is present, forming irregular spaces called pseudolumina. Subtypes include classic adenoid cystic carcinoma, solid-basaloid adenoid cystic carcinoma, and adenoid cystic carcinoma with high-grade transformation.
Synonyms / Terminology
Cylindroma (Historical)
Epidemiology / Prevalence
Rare; approximately 0.1% of all breast cancers
Clinical Features
| Signs and Symptoms | Palpable breast mass, mainly in elderly patients
Suspicious lesion on mammography |
| Laboratory Findings | Not applicable |
Sites of Involvement
Any quadrant of the breast; retroareolar most common
Morphologic Features
tubular, cribriform, and solid patterns
Immunophenotype
| Finding | Marker |
|---|---|
| Positive (universal) | Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA
Myoepithelial cells: CK14, CK5/6, p63 |
| Positive (subset) | Epithelial cells: KIT (CD117)
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10 |
| Negative (universal) | ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin) |
| Negative (subset) |
Chromosomal Rearrangements (Gene Fusions)
| Chromosomal Rearrangement | Genes in Fusion (5’ or 3’ Segments) | Pathogenic Derivative | Prevalence | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|
| t(6;9)(q23.3;p23) | MYB::NFIB | der(6) | 54% | Yes | No | Yes | Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB |
Individual Region Genomic Gain/Loss/LOH
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| Chr # | Gain / Loss / Amp / LOH | Minimal Region Genomic Coordinates [Genome Build] | Minimal Region Cytoband | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|
| 6 | Gain | chr6:135,502,453-135,540,311 [GRCh37/hg19] | 6q23.3 | Yes | No | No | MYB amplification |
Characteristic Chromosomal Patterns
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| Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|
Gene Mutations (SNV/INDEL)
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| Gene; Genetic Alteration | Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) | Prevalence (COSMIC / TCGA / Other) | Concomitant Mutations | Mutually Exclusive Mutations | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|---|
| NOTCH1; inactivating sequence variants (missense, nonsense, truncating) | Loss of function | 26% | Mostly solid basaloid subtype | |||||
| CREBBP; inactivating sequence variants (missense, nonsense, truncating) | Loss of function | 21% | Mostly solid basaloid subtype |
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Epigenomic Alterations
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Genes and Main Pathways Involved
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| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| MYB; gene fusion or amplification | Cell cycle, DNA replication, DNA repair | Promotes cellular proliferation |
Genetic Diagnostic Testing Methods
FISH for MYB rearrangement; RT-PCR for MYB-NFIB fusion transcript; RNA-based sequencing (whole transcriptome or targeted)
Familial Forms
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Additional Information
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Links
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References
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EXAMPLE Book
- Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
Notes
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